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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

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journal contribution
posted on 18.06.2021, 10:10 by Evie Alexandra Robson, Luke Dixon, Liam Causon, William Dawes, Massimo Benenati, Mahmoud Fassad, Robert Anthony Hirst, Priti Kenia, Eduardo Fernandez Moya, Mitali Patel, Daniel Peckham, Andrew Rutman, Hannah M Mitchison, Kshitij Mankad, Christopher O'Callaghan
Objective To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the multicilin gene. We hypothesize that the observed phenotype may reflect the emerging role that ependymal cilia play in regulating CSF production.

Method Clinical and radiologic records were retrospectively reviewed for 7 consecutive patients diagnosed by the Leicester UK national primary ciliary dyskinesia (PCD) diagnostic laboratory.

Results On MRI scanning, all patients demonstrated hydrocephalus, choroid plexus hyperplasia (CPH), and arachnoid cysts. No patient had any sign of neurologic deficit. All patients had significant lung disease.

Conclusions We conclude that there is a high incidence of hydrocephalus, arachnoid cysts, and CPH in MCIDAS-associated RGMC. In all cases, the observed hydrocephalus seems arrested in childhood without progression or adverse neurologic sequelae. Our new observation of CPH, which is associated with CSF overproduction, is the first macroscopic evidence that ependymal cilia may be involved in the regulation of CSF production and flow. We suggest that brain imaging should be performed in all cases of RGMC and that a diagnosis of PCD or RGMC be strongly considered in patients with unexplained hydrocephalus and a lifelong “wet”-sounding cough.

History

Citation

Neurol Genet2020;6:e482. doi:10.1212/NXG.0000000000000482

Author affiliation

Department of Respiratory Sciences, University of Leicester

Version

VoR (Version of Record)

Published in

Neurology Genetics

Volume

6

Issue

4

Pagination

e482

Publisher

Lippincott, Williams & Wilkins

issn

2376-7839

eissn

2376-7839

Acceptance date

09/06/2020

Copyright date

2020

Available date

18/06/2021

Spatial coverage

United States

Language

eng

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